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Molecular genetic tests

For molecular genetic tests, please send samples in EDTA anticoagulant and see our User Guide for more complete information.

 

 

 

 

Disorder

Type of test offered

Target reporting times

 Price

Alexander disease (ALX)

Carrier test (family mutation confirmed)

2 weeks

 £156

Full-gene mutation search (GFAP gene)

8 weeks 

 £400

Prenatal diagnosis (mutations known in family)

3 days

 £156

Breast/ovarian cancer

(Ashkenazi Jewish only)

Carrier  test only for common Ashkenazi Jewish BRCA1 (c.68_69delAG, c.5266dupC), and BRCA2 (c.5946delT)mutations

4 weeks

 £156

Canavan disease (CD)

Carrier test (family history with confirmed mutations or unconfirmed family history if Ashkenazi Jewish individuals)

2 weeks

 £156

Full-gene mutation search

8 weeks 

 £400

Prenatal diagnosis (mutations known in family)

3 days

£156 

Cystic fibrosis (CF)

Confirmation of diagnosis

2 weeks

 £156

Carrier test

2 weeks

 £156

Full-gene mutation search

8 weeks

 £600

Urgent samples (e.g. echogenic bowel)/ Prenatal diagnosis

3 days

 £156

Familial adenomatous polyposis coli

Full gene mutation scan (APC gene)

8 weeks

 £650

Predictive test (family mutation known)

2 weeks

 £156

Fragile-X syndrome

Confirmation of clinical diagnosis

Prenatal diagnosis

2-8 weeks

3 days - 2 weeks

 £100-£156

Hereditary haemochromatosis

Confirmation of clinical diagnosis, Carrier testing, Presymptomatic/predisposition testing

2 weeks

 £156

Lynch syndrome

Mutation characterisation (MLH1, MSH2, MSH6, or PMS2 genes)

8 weeks

 £400

Predictive test (family mutation known)

2 weeks

 £156

 

Tumour DNA analysis (microsatellite instability, methylation studies)

8 weeks

 £156-£462depending upon service required

JAK2  V617F mutation screening.

The JAK2 V617F mutation is a diagnostic mutation associated with a variety of MPDs. Results will be reported as being mutation POSITIVE or NEGATIVE as appropriate.

3 weeks

 

Juvenile polyposis syndrome (JPS)

Mutation characterisation (SMAD4, BMPR1A and ENG genes)

8 weeks

 £580

Predictive test (family mutation known)

2 weeks

 £156

KRAS & NRAS (Colorectal tumours)

KRAS and NRAS codon 12, 13 and 61

1 week

 NA

MUTYH  associated polyposis

Common mutations only (diagnostic, carrier or predictive test)

2 weeks

 £156

Full gene mutation search

8 weeks

 £400

NPM1 and FLT3-ITD mutation screening

Prognostically significant in newly diagnosed AML. Results will be reported as being mutation POSITIVE or NEGATIVE as appropriate.

10 days

 

Peutz-Jegher syndrome (PJS)

Mutation characterisation (STK11 gene)

8 weeks

 £400

Predictive test (family mutation known)

2 weeks

 £156

Polymerase -proofreading associated polyposis (PPAP)

Mutation characterisation:

POLD1 exon 12 c.1433G>A p.Ser478Asn

POLE exon 13 c.1270C>G p.Leu424Val

2 weeks

 £156

PTEN gene analysis

Mutation characterisation

8 weeks

 £400

Predictive test (family mutation known)

2 weeks

 £156

Sex determination

Prenatal (when clinically indicated)

3 days

 £156

Postnatal

2 weeks

 £156

Thrombophilia predisposition

Factor V [Leiden] Prothrombin  and MTHFR polymorphisms

2 weeks

 £156

UPD studies

UPD chromosomes 7 or 14

2 weeks

Dependant upon testing required

Y deletion studies

AZFa, AZFb and AZFc deletion testing

2 weeks

 £156


For cancer predisposition syndromes, testing provided only in context of appropriate genetic consultation and counselling.  Referrals accepted only from medical genetics, family cancer or specialist colorectal cancer units

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